LOCUS       NM_001409670            4834 bp    mRNA    linear   ROD 22-SEP-2024
DEFINITION  Mus musculus CHM Rab escort protein (Chm), transcript variant 8,
            mRNA.
ACCESSION   NM_001409670
VERSION     NM_001409670.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4834)
  AUTHORS   Sarkar,H., Tracey-White,D., Hagag,A.M., Burgoyne,T., Nair,N.,
            Jensen,L.D., Edwards,M.M. and Moosajee,M.
  TITLE     Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in
            choroideremia
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (2), 166963 (2024)
   PUBMED   37989423
REFERENCE   2  (bases 1 to 4834)
  AUTHORS   Meschede,I.P., Burgoyne,T., Tolmachova,T., Seabra,M.C. and
            Futter,C.E.
  TITLE     Chronically shortened rod outer segments accompany photoreceptor
            cell death in Choroideremia
  JOURNAL   PLoS One 15 (11), e0242284 (2020)
   PUBMED   33201897
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4834)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4834)
  AUTHORS   Hayes,M.J., Burgoyne,T., Wavre-Shapton,S.T., Tolmachova,T.,
            Seabra,M.C. and Futter,C.E.
  TITLE     Remodeling of the Basal Labyrinth of Retinal Pigment Epithelial
            Cells With Osmotic Challenge, Age, and Disease
  JOURNAL   Invest Ophthalmol Vis Sci 60 (7), 2515-2524 (2019)
   PUBMED   31194861
REFERENCE   5  (bases 1 to 4834)
  AUTHORS   Wavre-Shapton,S.T., Tolmachova,T., Lopes da Silva,M., Futter,C.E.
            and Seabra,M.C.
  TITLE     Conditional ablation of the choroideremia gene causes age-related
            changes in mouse retinal pigment epithelium
  JOURNAL   PLoS One 8 (2), e57769 (2013)
   PUBMED   23460904
  REMARK    GeneRIF: Loss of the Chm/Rep1 gene causes premature accumulation of
            features of aging in the retinal pigment epithelium.
            Erratum:[PLoS One. 2013;8(5).
            doi:10.1371/annotation/83a88285-e6a0-41fb-ae67-4315c21e5090. da
            Silva, Mafalda Lopes [corrected to Lopes da Silva, Mafalda]]
REFERENCE   6  (bases 1 to 4834)
  AUTHORS   Shi,W., van den Hurk,J.A., Alamo-Bethencourt,V., Mayer,W.,
            Winkens,H.J., Ropers,H.H., Cremers,F.P. and Fundele,R.
  TITLE     Choroideremia gene product affects trophoblast development and
            vascularization in mouse extra-embryonic tissues
  JOURNAL   Dev Biol 272 (1), 53-65 (2004)
   PUBMED   15242790
REFERENCE   7  (bases 1 to 4834)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   8  (bases 1 to 4834)
  AUTHORS   Alexandrov,K., Simon,I., Yurchenko,V., Iakovenko,A., Rostkova,E.,
            Scheidig,A.J. and Goody,R.S.
  TITLE     Characterization of the ternary complex between Rab7, REP-1 and Rab
            geranylgeranyl transferase
  JOURNAL   Eur J Biochem 265 (1), 160-170 (1999)
   PUBMED   10491170
REFERENCE   9  (bases 1 to 4834)
  AUTHORS   van den Hurk,J.A., Hendriks,W., van de Pol,D.J., Oerlemans,F.,
            Jaissle,G., Ruther,K., Kohler,K., Hartmann,J., Zrenner,E., van
            Bokhoven,H., Wieringa,B., Ropers,H.H. and Cremers,F.P.
  TITLE     Mouse choroideremia gene mutation causes photoreceptor cell
            degeneration and is not transmitted through the female germline
  JOURNAL   Hum Mol Genet 6 (6), 851-858 (1997)
   PUBMED   9175730
REFERENCE   10 (bases 1 to 4834)
  AUTHORS   Andres,D.A., Seabra,M.C., Brown,M.S., Armstrong,S.A., Smeland,T.E.,
            Cremers,F.P. and Goldstein,J.L.
  TITLE     cDNA cloning of component A of Rab geranylgeranyl transferase and
            demonstration of its role as a Rab escort protein
  JOURNAL   Cell 73 (6), 1091-1099 (1993)
   PUBMED   8513495
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL669958.14.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR17253012.5658601.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AL669958.14        160645-160715       c
            72-168              AL669958.14        148121-148217       c
            169-235             AL669958.14        134708-134774       c
            236-308             AL669958.14        115918-115990       c
            309-723             AL669958.14        91220-91634         c
            724-840             AL669958.14        87753-87869         c
            841-961             AL669958.14        87133-87253         c
            962-1187            AL669958.14        85380-85605         c
            1188-1265           AL669958.14        55342-55419         c
            1266-1370           AL669958.14        47121-47225         c
            1371-1434           AL669958.14        44783-44846         c
            1435-1531           AL669958.14        40051-40147         c
            1532-1630           AL669958.14        28266-28364         c
            1631-1791           AL669958.14        22540-22700         c
            1792-4834           AL669958.14        15797-18839         c
FEATURES             Location/Qualifiers
     source          1..4834
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 48.94 cM"
     gene            1..4834
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="CHM Rab escort protein"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
     exon            1..71
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            72..168
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            169..235
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            236..308
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            309..723
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             370..1983
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="isoform 8 is encoded by transcript variant 8; rab
                     proteins geranylgeranyltransferase component A 1; rab
                     escort protein 1; choroideraemia protein homolog;
                     choroideremia protein homolog; choroidermia (RAB escort
                     protein 1)"
                     /codon_start=1
                     /product="rab proteins geranylgeranyltransferase component
                     A 1 isoform 8"
                     /protein_id="NP_001396599.1"
                     /db_xref="GeneID:12662"
                     /db_xref="MGI:MGI:892979"
                     /translation="MSAQATEAAEAAEAAEAAEATEAAEAACLPTAEESLSTRSCELP
                     AEQSQCTGPESSPQVNDAEVGEKETQSDAKSSTEQSSEILPKVQDNTETPKRNVITYS
                     QIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGTVEQVPC
                     SRADVFNSKQLTMVEKRMLMKFLTFCVEYEDHPDEYKAYEETTFSEYLKTQKLTPNLQ
                     YFVLHSIAMTSETTSSTVDGLKATKKFLQCLGRYGNTPFLFPLYGQGELPQCFCRMCA
                     VFGGIYCLRHSVQCLVVDKESRKCKAIVDQFGQRIISKHFVIEDSYLSENTCSGVQYR
                     QISRAVLITDGSVLKPDSDQQVSILTVPAEESGSFAVRVIELCSSTMTCMKGTYLVHL
                     TCMSSKTAREDLERVVQKLFTPYTEIEAENEQVEKPRILWALYFNMRDSSDISRDCYN
                     DLPSNVYVCSGPDCNLGNDNAVQQAETVFQKICPNEDFCPAPPNPEDIILDGDSSQQE
                     VSESSVIPETNSETPKESTVLGDSEEPSE"
     exon            724..840
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            841..961
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1187
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1265
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1370
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1434
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1531
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1532..1630
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..1791
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..4834
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4814..4819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="hexamer: AATAAA"
     polyA_site      4834
                     /gene="Chm"
                     /gene_synonym="Rep-1"
                     /note="major polyA site"
ORIGIN      
        1 acatgacacg tttcctgtca agatggcgga taatctccct tcggactttg atgtgatcgt
       61 aatagggacg ggttacactc catcactgtg gcaagtcagg gccagaactc aggacaggaa
      121 gctgaagtca gaactgataa agaggtcacg gagaagtgct gcttactggt ctgcctgaat
      181 ccatcattgc agctgcatgt tcaaggagtg gccagagggt tctgcatgtt gattcaagaa
      241 gctactatgg aggaaactgg gccagtttca gcttttcagg actgttgtcc tggctaaagg
      301 aataccagtc aggatttgca caaagatgtt gaagaagctg gtgcactgca gaaaaatcct
      361 gcttcagtga tgtccgcaca ggccacagag gccgcagagg ctgcagaggc cgcagaggct
      421 gcagaggcca cagaggctgc agaggccgct tgccttccta ctgcagagga gtccttaagc
      481 acgaggagct gtgaactacc tgcagaacaa agtcagtgca cggggccaga gagttcacca
      541 caagtaaatg atgctgaagt aggagagaaa gaaactcaga gtgatgcaaa aagttcaaca
      601 gaacaatcaa gtgaaatttt gcctaaagta caagacaaca cagagacacc aaagagaaat
      661 gtaattactt actcacagat tattaaagaa ggccgaagat ttaacattga tttagtatca
      721 aaacttctct attctcgggg attactaatt gatcttctaa tcaaatcaaa tgttagtcgg
      781 tatgcagagt ttaaaaacat tacgaggatt cttgcatttc gagaaggaac tgtggaacag
      841 gtcccctgtt ccagagcaga tgtcttcaat agcaaacaac ttactatggt agaaaagcga
      901 atgcttatga aatttcttac attttgtgtg gaatatgaag accatcccga tgagtacaaa
      961 gcatacgagg aaactacatt ttctgaatac ttaaaaactc aaaaattaac ccccaaccta
     1021 caatattttg tcctgcactc aattgcaatg acatcagaga caacaagcag tactgtagat
     1081 ggtctcaaag ctactaaaaa gtttcttcag tgtcttgggc ggtatggcaa cactccattt
     1141 ctgtttcctt tatatggcca aggagaactt ccacagtgtt tttgcagaat gtgtgctgtg
     1201 tttggtggaa tctattgtct tcgccattca gtacagtgcc ttgtagtgga caaagaatcc
     1261 agaaaatgta aagcaattgt agatcagttt ggtcaaagga taatctctaa acatttcgtt
     1321 attgaagaca gttacctttc tgagaataca tgttccggtg tacagtacag gcaaatttcc
     1381 agggcagtcc tgattacaga tggatcagta ctaaaacccg attctgatca acaggtctcc
     1441 attttgacag tgccagcaga agagtcagga agttttgctg ttcgagtcat tgagttatgc
     1501 tcttcaacaa tgacatgcat gaaaggcaca tacttggtac atttgacttg catgtcttct
     1561 aaaacagcaa gagaagattt agaacgagta gtccagaaat tgtttactcc atatacagaa
     1621 atcgaagcag aaaatgaaca ggttgaaaag ccaagaattc tatgggcact ctacttcaat
     1681 atgagagact cttcggatat cagcagagat tgttataatg atttaccgtc caatgtctat
     1741 gtgtgctctg gccctgactg taatctagga aatgataatg cagtccaaca ggcggaaaca
     1801 gttttccaga aaatctgccc aaatgaagac ttctgtccag ccccaccaaa tcctgaagat
     1861 attattcttg atggagacag ctcacaacaa gaagtttcag aatccagtgt cataccagaa
     1921 accaactcag aaactcccaa ggaaagtaca gtcctaggag actcagaaga gccctctgaa
     1981 tagtggatgt gcatcagaca taacattcta tttggaaatt cctgtcgcct tcacagtctt
     2041 cttgatagaa ggaatatttg aaatctttca aaaagcaaca accaatttat taggaaaaat
     2101 taggagaaac aggttccaga aatccaaaaa ggaatttttt caacaagggc atttccagaa
     2161 acataaaaca cttataaagc acattaactt acctgtttta acataccaaa cctgtgagat
     2221 tagcaggtga aaaatatgaa aggactgatt cccagaaatg tagttatgat gggaaagggg
     2281 tcctatgctt cgttaacaat tatgtggtgt tcacagaaat ttgttcgcca attgtgatct
     2341 ttttgttgtt gttgttgttg aaagccacat ctggagagtc agctcacata cttattttgg
     2401 ttatttgaat tatattttca atctgagcat gatataacag ataaaagcat gtgtaaatac
     2461 ggtagaataa agctaaacta tcatgaactg gccaggagcc tatatttgga gtaaaagttg
     2521 gttttatttc ctatgttaaa agctgaatat gttaatacta aggtgtttag acattttgct
     2581 aattttaatt tcttagtaat tagtgatttg tatataaatc acatacacaa ttggccaaac
     2641 ttcaaagatt aagaaataga agaatacaag caaacatttg ataggatgat tctactgagt
     2701 caacggaagc actaagtcct tatccacaga actaatttca tcatagctgt gttactcaaa
     2761 atattaggca aattgttaaa cttatcttca gtttctccag atatgaagtg aaacatgcct
     2821 cctataacag agcagtcttg aagatcaatg cagcactaac attagaatgg ttcttctgga
     2881 cattgatctg tggaaaaata tcaaaccaac ctcatgatca cagtgttata tttattgcag
     2941 taaattttta atgccagtct gtttcctaaa ctcattaata acaggtggaa tggtagttct
     3001 tgaagtctta ggaatacttt ataaattaac gttcctcttc tggcaacaaa accatcaaga
     3061 cctgaacaga gtgtagcaat taataacctg taatatacat tttacatgag aaaaatgagg
     3121 gctatccatt gacagaaaac ctatttgcaa tgcctacatt taaatgtctc taagctctga
     3181 tggtctactt tcttgagcaa tagtttagac ctagaactgc ctataaataa ataaacaata
     3241 aataaacgca atgcttcctg tcagggagcc atggctccaa ggaaaagcac agaattctcc
     3301 atgtgcagct gcttccctaa cctggccagg tttcagcgat gttaaagctc ccagcacaga
     3361 ttcataagaa atgtaaaaat ccaaggaatg tagctcttgc tgacccttga agaaggagtt
     3421 ggattgagaa aatgggaaaa atttcccaga cttccaggct gttcctctca ggttgcctgt
     3481 acctcccgct gtacagctct ctcctctggg gtatccaatc ctttttataa tgtcacacaa
     3541 atcagggaca gaatcacttt ataacctact ttgtcacaaa gcttcagctc ttatgtcagc
     3601 tgttgtttcc tgaagcccac ctagggcatg cactaaatgc caagtacgct cctgtaatgc
     3661 accaggtact ggccctgcct ctccatacca gcaatatgaa agtttctctt ggatggggac
     3721 gttaagttgg aatacaatca cagttatgtc acaccagtaa aagtgttata ctttgttata
     3781 atcttagagt taaggcctcc taaatgtaga atgcacattt atctaaggag actattaagc
     3841 tagatagggt tagaataatt agaagaacta gacacctttg gacactgcag ctctgtacat
     3901 tgtagaacaa cacagaaact attttttatt tcatggccca gcgtacacaa tatctttttt
     3961 tcatcctttt ggtgcaatca gaaaaaaaaa aaaaaaaact ctcttccagg tcatttactg
     4021 agtatattat taaaatgctt aaagctcctg aatatgatta ataatgactg aaataccaca
     4081 aaattgtttt caaaattgta gacagaccta tttcttgttg cctcagagtg tcatactaaa
     4141 cctttgaaga gcattttctt ttgttttctt aattattgct taatacttgg ttttactgta
     4201 ttaaggtcaa aacaatacca acaacaaacc ttaaggttgt attataaaac cttacaacac
     4261 aatgtttgct gttttacaca atgcaaacat ttcagtaatt ttaaattttg aagttgctgg
     4321 tatcaaaatt tttttatttg tttgttgaaa gtatttaaat atgcatgcct gtttctggaa
     4381 acgaaaaatg gtatatcatt aagtgataag atccaataac taatcctatg ttgcttttgt
     4441 atatttttct agttggtgtg cctgtctaag aaagcatata taataaatgt cagtttctat
     4501 ttttatataa taaaatggcc atgggtaact tctagactag tggacatttc taacataata
     4561 tctataatta taatgttaat taataattat taacttctgg caagattgtt tctagaatta
     4621 tctgccctag tattgttatc tagttcctaa tagtagcaat catttaaagg aatttaaaaa
     4681 aacattttct tgcaaatact tatgtgctac tggtattgaa taatttgtct tttgctcagt
     4741 aaaagttctt acgtatttaa aaaggcatga gtctataata atttgcatac tgtaacaggg
     4801 aattttcaga gaaaataaag acttttcaat gctt
//
